hemoglobinopathy

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hemoglobinopathy

 [he″mo-glo″bĭ-nop´ah-the]
1. any hematologic disorder due to alteration in the genetically determined molecular structure of hemoglobin, with characteristic clinical and laboratory abnormalities, resulting in conditions such as hemolytic anemia, sickle cell anemia, or thalassemia.
2. sometimes more specifically, a hemoglobin disorder in which the amino acid sequence is altered, as opposed to thalassemia, in which there is reduced or absent synthesis of one or more normal polypeptide chain(s).

he·mo·glo·bi·nop·a·thy

(hē'mō-glō'bi-nop'ă-thē),
A disorder or disease caused by or associated with the presence of abnormal hemoglobins in the blood, for example, sickle cell disease, hemoglobin C, D, E, H, or I disorders. Occasionally, combinations of abnormal hemoglobins are seen in hemoglobinopathies.
[hemoglobin + G. pathos, disease]

hemoglobinopathy

Hematology A defect in either α or β hemoglobin, which may be quantitative or qualitative, congenital or–rarely —acquired; while the more common Hb defects–eg, HbS, HbC and thalassemias, cause a characteristic clinical picture, 'rare hemoglobin variants are variously ignored, misunderstood, misdiagnosed, feared, shunned or rejected.' and are not accompanied by clinical disease. See Hemoglobin C disease, Hemoglobin SC disease, Sickle cell anemia, Thalassemia.
Hemoglobinopathies–Major Biochemical Forms
Sickle Cell Hgb S
Sickle/C disease Hgb S, Hgb C
Hemoglobin C Disease Hgb C
Thalassemia major Hgb F
Thalassemia minor Hgb A2
Clinical presentations of hemoglobinopathy
Sickling phenotype, eg HbS, HbSC, HbS-Thalassemia
Thalassemic phenotype, eg Constant Spring, HbE, Lepore, Kenya, Vicksburg, Indianapolis
oxygen affinity phenotype, eg Bristol, Bucuresti/Louisville, Caribbean, Etobicoke, Hammersmith, Moscva, Okaloosa, Peterborough, Seattle, Torino
oxygen affinity phenotype, eg Altdorf, Istanbul, Baylor, Belfast, Boras, Buenos Aires, Cranston, Duarte, Djelfa, Freiburg, Geneva, Hopkins II, Koln, Lyon, Niteroi, Nottingham, Pasadena, Sabine, Santa Ana, St Louis, Shepherds Bush, Tak, Tours, Toyoake, Tübingen, Zürich  

he·mo·glo·bi·nop·a·thy

(hē'mō-glō'bi-nop'ă-thē)
A disorder or disease caused by or associated with the presence of hemoglobins in the blood.
Synonym(s): haemoglobinopathy.
[hemoglobin + G. pathos, disease]

he·mo·glo·bi·nop·a·thy

(hē'mō-glō'bi-nop'ă-thē)
A disorder or disease caused by or associated with the presence of hemoglobins in the blood.
Synonym(s): haemoglobinopathy.
[hemoglobin + G. pathos, disease]